RESUMO

We describe 2 patients with adult-onset type II citrullinemia who developed transient hypoproteinemia and jaundice in early infancy. Liver histology showed a marked fatty change and fibrosis. After the patients had lived without symptoms to the ages of 5 and 16 years, respectively, the diagnosis was made by genetic analysis.

Assuntos

Citrulinemia/diagnóstico , Adolescente , Biópsia , Pré-Escolar , Citrulinemia/genética , Citrulinemia/patologia , Fígado Gorduroso/patologia , Feminino , Genótipo , Humanos , Fígado/patologia , Masculino , Mutação Puntual , Reação em Cadeia da Polimerase